Multifocal congenital pyogenic granuloma successfully treated with oral propranolol.

Disseminated congenital pyogenic granuloma (DCPG) is an uncommon condition. Individual lesions of DCPG share clinical and histologic similarities with infantile hemangioma (IH); endothelial glucose transporter 1 (GLUT-1), which is highly expressed in IH but generally not in pyogenic granulomas (PG), is an important diagnostic tool. Treatment for DCPG remains difficult. We describe a case of DCPG effectively treated with propranolol.

Peeling skin syndrome associated with novel variant in FLG2 gene.

Peeling skin syndrome is a rare genodermatosis characterized by variably pruritic superficial generalized peeling of the skin with several genes involved until now little is known about the association between FLG2 and peeling skin syndrome. We describe multiple family members from a consanguineous Saudi family with peeling skin syndrome. Next Generation Sequencing identifies a cosegregating novel variant in FLG2 c.632C>G (p.Ser211*) as a likely etiology in this family. Here, we reported on the clinical manifestation of homozygous loss of function variant in FLG2 as a disease-causing gene for peeling skin syndrome and expand the dermatology findings.

Patterns of Clinical Management of Atopic Dermatitis: A Survey of Three Physician Specialties in the Middle East.

INTRODUCTION: Atopic dermatitis (AD) is a complex inflammatory disease of the skin that has a significant impact on the well-being of patients and their families. The prevalence of AD has increased in developing countries and regions, including the Middle East. Despite similarities in the presentation of the disease, there is a lack of consistent management and treatment guidelines for AD. The objective of this survey was to develop further insight into the management patterns of AD from dermatologists, pediatricians, and primary care/family medicine physicians in the Middle Eastern nations of Egypt, Lebanon, the United Arab Emirates, and Saudi Arabia. METHODS: The survey was composed of 47 closed-ended, multiple-choice questions. These questions assessed physician and patient characteristics and treatment familiarity and approach. RESULTS: A total of 400 physicians, including 200 dermatologists, 100 pediatricians, and 100 primary care physicians, participated in the survey. The findings provide insight into the management of AD by physician specialty within the region. A diverse array of management approaches was observed for both referral patterns and treatments for AD in the Middle East. CONCLUSION: The diversity of management tactics highlights the lack of a standard approach for the management of AD throughout the Middle East.

Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles.

Background: Hypotrichosis with Recurrent Skin Vesicles (HYPTSV) is an extremely rare condition, having autosomal recessive inheritance. Here in we report a 4-years- old Saudi boy who presented with a history of recurrent skin blisters that are localized to the extremities and hypotrichosis since birth. Methods: The present study describes a consanguineous Saudi family segregating HYPTSV in an autosomal recessive fashion. A single proband (II-1) exhibited features such as diffused non-scarring alopecia on the scalp, intraepidermal blister, post-inflammatory hyperpigmented macules, and follicular hyperkeratosis. DNA of the index was subjected to whole-genome sequencing (WGS). Furthermore, 3D protein modeling was performed for the mutated and normal protein. Results: WGS revealed a novel bi-allelic missense variant (c.154G>C; p. Val52Leu) in the DSC3 gene, which segregated perfectly using Sanger sequencing. In addition, 3D protein modeling revealed a substantial change in the mutated DSC3 protein as compared to the normal DSC3 protein. Conclusion: This is the 3rd novel variant reported in the DSC3 gene associated with the HYPTSV phenotype. This report further strengthens the evidence that bi-allelic variants in the DSC3 cause severe HYPTSV in humans.

Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis.

Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the SLC27A4 gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (c.1 A> G, p.Met1Val) in the SLC27A4 gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.

Scalp roof tiles.: A new diagnostic sign in neonates with Netherton Syndrome.

CLINICAL PRESENTATION: A 2-month-old baby boy, of full-term spontaneous vaginal delivery, presented to the dermatology outpatient clinic with generalized erythroderma, which had been noted since birth. Family history was positive for similar disease in his eldest sister, who died at 6 months of age without a diagnosis. On examination, the patient looked ill with generalized erythroderma, yet there were no signs of ectropion, eclabium, or deformed ears. Diffuse scalp scaling was observed with interlocking tessellation scales over the scalp (Figure 1). Hair microscopy showed in Figure 2. All laboratory results were normal.

Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Epidermolysis bullosa (EB) is a rare heterogeneous genetic mechanobullous skin disorder that is characterized by increased skin fragility leading to blistering following minor trauma. EB may be inherited as an autosomal dominant or an autosomal recessive disorder and can be classified into dystrophic EB (DEB), junctional EB (JEB), and EB simplex (EBS). A total of 28 Saudi patients with EB were included in this observational, retrospective chart-review study. A consecutive non-probability sampling technique was used to approach all affected patients. Molecular analysis was done to test the patients' genomic DNA using a custom-designed AmpliSeq panel of suspected genes. All disease-causing variants were checked against available public databases. Twelve patients (42.9%) were found to have DEB, 6 patients (21.4%) with JEB, and 10 patients (35.7%) with EBS. The molecular genetic results revealed detections of 24 various homozygous genetic variations in the genes associated with EB, of which 14 were novel mutations. The most frequent variations were detected in COL7A1 in 12 cases (42.9%), followed by LAMB3 in 5 cases (17.9%), TGM5 in 4 cases (14.3%), and other genes. Furthermore, the majority (87.5%) of EB cases were confirmed to have homozygous mutations, and few were documented with positive consanguinity history. Only 3 cases (12.5%) were found to be autosomal dominant displaying heterozygous mutations. This is the first study to establish the EB genetic profile in Saudi Arabia where DEB is the most frequent type. A total of 14 novel mutations were identified that had not been previously reported. Consanguineous marriage is clearly recognized in the Saudi population; therefore, we propose a nationwide EB program that would help extend the spectrum of the genetic profile and help in the diagnosis and better understanding of this disease.

Cutaneous presentation of kwashiorkor due to infantile Crohn's disease.

Kwashiorkor is one of the severe forms of protein-energy malnutrition. Many characteristic dermatoses can be seen in children suffering from kwashiorkor, and some are pathognomonic. Here, we report an infant who presented with diarrhea and skin signs of kwashiorkor, and duodenal biopsy was consistent with Crohn's disease. The patient was treated with prednisolone administered orally in a tapering course plus azathioprine, in addition to nutritional supplementation. The general condition of the patient quickly improved and his skin lesions completely resolved within 2 weeks. Kwashiorkor is a serious potentially fatal disease that occurs less often in developed countries leading to low index of suspicion by physicians and pediatricians in those regions. Occasionally, dermatologists have the rare chance of alerting pediatricians to the diagnosis of kwashiorkor, thus making a difference in the care of this disease.

Practical tip: Precooling topical calcineurin inhibitors tube; reduces burning sensation.

Burning sensation at the site of application is the most common side effect of topical calcineurin inhibitors and is considered the most common reasons for premature discontinuation. Here, we analyze the possible mechanism(s) and offer a simple practical tip to mitigate this adverse effect. Simple cooling of the tube, immediately before use, does reduce the burning sensation and enable most intolerant patients to use the medication comfortably. We also discuss the possible explanation(s) for the success of this maneuver.

Infantile systemic hyalinosis presenting as intractable infantile diarrhea.

Infantile systemic hyalinosis is an autosomal recessive disease characterized by severe progressive flexion contractures, multiple recurring subcutaneous tumours, and gingival hypertrophy. It is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG2). Here we report a Saudi infant with infantile systemic hyalinosis who presented with intractable diarrhea, and we review the literature emphasizing recent developments in the molecular genetics of this disease.

Report of a Case that Expands the Phenotype of Infantile Krabbe Disease.

BACKGROUND Krabbe disease, or globoid cell leukodystrophy, is an autosomal recessive disease caused by the deficiency of lysosomal galactocerebrosidase. The most common form is infantile Krabbe disease, which is usually diagnosed within the first year of life and has high morbidity and mortality. Patients usually present with irritability, progressive neurodegeneration, spasticity, and peripheral neuropathy. This report is of a 6-year-old girl who had Krabbe disease since she was 5 weeks of age. CASE REPORT A 6-year-old female Saudi patient had initially presented at 5 weeks of age with hypoventilation, recurrent attacks of fever, and failure to thrive. The patient also skin hypopigmentation involving the face, neck, upper extremities, and lower extremities. Peripheral blood galactocerebrosidase enzyme activity was normal but was reduced in tissue fibroblasts. Whole exome sequencing (WES) and whole genome sequencing (WGS) showed a homozygous mutation in the GALC gene c.334A>G (p.Thr112Ala), which was previously reported in a compound heterozygous state with another mutation. CONCLUSIONS This case report describes a patient with homozygous mutation status Krabbe disease. Although this patient had the phenotype of early infantile-onset Krabbe disease, which usually has high morbidity and mortality, her condition is now relatively stable at 6 years of age, which could be due to relatively higher enzyme activity. This case also expanded the presentation or typical phenotype of infantile Krabbe disease as the patient also presented with hypoventilation and skin hypopigmentation.

Dermatologic challenges of pilgrimage.

Hajj is 1 of the 5 pillars of Islam. The Kingdom of Saudi Arabia has been privileged to host this event, which brings close to 2 million pilgrims from all over the world every year. During this holy ritual, the Muslims gather in Makkah before starting the journey. Recorded temperatures during the Hajj time is in the range between 37 degrees C and 45 degrees C. Overcrowding and the hot climate subject the pilgrims to environmental and health hazards. Dermatologic conditions, whether exacerbations of preexisting disease or the occurrence of new ones, account for 4.5% to 5.5% of all diseases seen during the 3-week periods of the Hajj. An overview of the mission of Hajj will be presented with an in-depth systematic review of dermatologic diseases seen at local hospitals in Makkah. Because the skin is the largest body organ and is the frontier defense for many environmental challenges, skin problems during the Hajj journey are not uncommon. The degree of heat and humidity may lead to exacerbation of preexisting cutaneous diseases or the occurrence of new ones. Overcrowding and poor hygiene also contribute to a myriad of infections: viral, bacterial, fungal, and/or parasitic. Skin diseases during Hajj can be divided into 2 broad categories, infectious and non-infectious. Unfortunately, despite the magnitude of Hajj and its existence for centuries, only a few reports and studies have been published about skin diseases. Preventative measures such as sunscreens, umbrellas, and protective footwear should be encouraged. The spread of cutaneous infections (fungal, viral, and bacterial) may be reduced with proper pretravel counseling and use of proper therapy.

Cutaneous mimickers of child abuse: a primer for pediatricians.

The annual incidence of child abuse was estimated to be 2.8 million by the national incidence study conducted in the USA in 1993, which is a two-fold increase compared to 1986. Awareness of child abuse has been increasing since the 1960s. Although most victims of child abuse present with cutaneous lesions, many genuine skin diseases may appear as non-accidental injuries which, if not recognized, may lead to misdiagnosis of child abuse. Here, we review the most common cutaneous mimickers of child abuse in order to increase awareness of these disorders and reduce erroneous diagnosis of child abuse.

Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations.

Methionine adenosyltransferase (MAT) I/III deficiency (OMIM # 250850) is caused by a mutation in MAT1A, which encodes the two hepatic MAT isozymes I and III. With the implementation of newborn screening program to discover hypermethioninemia due to cystathionine beta-synthase deficiency, more cases are being discovered. While the majority of patients are asymptomatic, some might have central nervous system (CNS) and extra-CNS manifestations. Although neurologic manifestations and demyelination have been correlated to MAT deficiency in many reported cases, none of the previous reports focused on extra-CNS manifestations associated with the disease. This is a retrospective chart review for a 40-month-old patient with confirmed diagnosis of MAT deficiency. He was found to have a novel homozygous disease-causing variant in MAT1A (NM_000429.2) c.1081G>T (p.Val361Phe). Interestingly, our patient had an unexplained zinc and iron deficiency in addition to mild speech delay. We reviewed the literature and summarized all the reported extra-CNS manifestations. In conclusion, MAT deficiency patients should be thoroughly investigated to check for CNS and extra-CNS manifestations associated with the disease. Keeping in consideration the challenge of assuming correlation, a scrutinized look at extra-CNS manifestations and their course with time might pave the way to understanding the pathophysiology of the disease and MAT1A function.

Childhood generalized pustular psoriasis: successful treatment with isotretinoin.

Generalized pustular psoriasis is a rare form of psoriasis that is characterized by the eruption of sterile pustules. Because of the concern of the long term teratogenetic effect of acitretin in females of childbearing age, we treated a 16-year-old girl with pustular psoriasis with isotretinoin with excellent outcome.

Isolated nail lichen planus with primary sclerosing cholangitis in a child.

Lichen planus LP is an uncommon, inflammatory dermatosis with characteristic lesions affecting the skin, the nails, and the mucous membranes. It is rare in childhood. Although nail abnormalities have been reported in 1 - 10% of patients with LP, the prevalence of nail involvement in affected children is unknown. Here we report a 2-year-old child with isolated nail LP, in association with primary sclerosing cholangitis.

Black (samsum) ant induced anaphylaxis in Saudi Arabia.

Ant allergy is a rare clinical problem that ranges from local to systemic reaction and life-threatening anaphylaxis. Different types of ants including the imported fire ants, the black (samsum) ants, and others, are considered health hazard in many parts of the world. We report a 32-year-old Saudi female from Hafr-Al-Batin in the Northern region of Saudi Arabia, with history of recurrent anaphylaxis following black (samsum) ant stings and we review the related literature. This is the first report of black (samsum) ant allergy in Saudi Arabia.

Parry-Romberg syndrome. Overlap with linear morphea.

Parry-Romberg syndrome, also known as progressive hemifacial atrophy, was first described by Parry in 1825 then Romberg in 1846. It is a poorly understood rare disorder characterized by progressive hemifacial atrophy of the skin, subcutaneous tissue, and sometimes, the underlying structures including muscles, cartilages and bones. A case report of a Saudi female with this rare disorder is presented with a brief review of the literature.